{
    "disease_id": "DOID:0111388",
    "recommended_name": {
        "id": "DOID:0111388",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111388",
        "name": "X-linked hypoparathyroidism",
        "description": "A hypoparathyroidism that has_material_basis_in mutation in a region on chromosome Xq27.1 that appears to alter expression of SOX3."
    },
    "synonyms": [
        {
            "id": "DOID:0111388",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111388",
            "name": "HYPX",
            "description": ""
        },
        {
            "id": "DOID:0111388",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111388",
            "name": "agenesis of parathyroid glands",
            "description": ""
        },
        {
            "id": "MONDO:0010618",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010618",
            "name": "familial isolated hypoparathyroidism due to agenesis of parathyroid gland",
            "description": "Hypoparathyroidism in which the inheritance is recessive and linked to the q26-q27 region of the X chromosome. The parathyroid glands are usually incompletely developed (parathyroid dysgenesis) or absent (parathyroid agenesis)."
        },
        {
            "id": "MONDO:0010618",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010618",
            "name": "X-linked hypoparathyroidism",
            "description": ""
        },
        {
            "id": "MONDO:0010618",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010618",
            "name": "HYPX",
            "description": ""
        },
        {
            "id": "MONDO:0010618",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010618",
            "name": "hypoparathyroidism, X-linked",
            "description": ""
        },
        {
            "id": "MIM:307700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/307700",
            "name": "Hypoparathyroidism, X-linked",
            "description": "Hypoparathyroidism, X-linked"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111388"
    ],
    "unlinked_id_list": []
}